Genetic Linkage

In osteogenesis imperfecta, the whites of the eyes are bluish-gray. Many genetic diseases are pleiotropic, affecting more than one body part.

A challenge of living with a genetic disease, especially a very rare one, is that the mutation may affect different body parts. A health care practitioner may not consider a patient’s inherited condition, especially if the most recognizable symptoms don’t fall into his or her specialty.

Shirley Banks discovered the importance of seeking a second, specialized opinion when the doctor she’d been seeing for many years had a disturbing reaction to a question.